Target

Involvement in diseaseGliomaGenetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate.

Sequence similaritiesBelongs to the isocitrate and isopropylmalate dehydrogenases family.